Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN4
Variant:p.Q412P

GEMIN4

420 papers

RefSeq Summary

The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assemb...

Pfam Domains

TPR_Edg1aa 390–919UCSCEdg1, TPR repeats

Gene Aliases

HGNC Name

gem nuclear organelle associated protein 4

HGNC Alias Symbols

HHRF-1; DKFZP434B131; p97; DKFZP434D174; HC56; HCAP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015721.3
p.Q412P
c.1235A>C
Surrounding Variants
1 paper
NM_015721.3
p.M415V
c.1243A>G
1 paper
NM_015721.3
p.H418R
c.1253A>G
1 paper
NM_015721.3
p.D401G
c.1202A>G
1 paper
NM_015721.3
p.T392M
c.1175C>T
3 papers
NM_015721.3
p.A439S
c.1315G>T
1 paper
NM_015721.3
p.A439P
c.1315G>C
1 paper
NM_015721.3
p.A439T
c.1315G>A
1 paper
NM_015721.3
p.A439V
c.1316C>T
1 paper
NM_015721.3
p.A439G
c.1316C>G
1 paper
NM_015721.3
p.D385A
c.1154A>C
1 paper
NM_015721.3
p.E381K
c.1141G>A
1 paper
NM_015721.3
p.A380A
c.1140G>A
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